Affiliation: Vanderbilt University
- Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetranceJOY COGAN
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Circulation 126:1907-16. 2012..However, only 20% of mutation carriers get clinical disease. Here, we explored the hypothesis that this reduced penetrance is due in part to an alteration in BMPR2 alternative splicing...
- BMPR2 expression is suppressed by signaling through the estrogen receptorEric D Austin
Department of Pediatrics, Vanderbilt University Medical Center, 1161 21st Ave S Suite DD 2205, Nashville, TN 37232 2578, USA
Biol Sex Differ 3:6. 2012..abstract:..
- Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetranceCharles Flynn
Departments of Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA
Am J Respir Cell Mol Biol 47:20-7. 2012..These results provide the first molecular insights into NMD+ BMPR2 related HPAH penetrance and highlight the potential utility of cMap analyses in pulmonary research...
- Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertensionEric D Austin
Department of Pediatrics, Vanderbilt University, Medical Center, Nashville, TN, USA
Respir Res 10:87. 2009..We hypothesized that patients with missense BMPR2 mutations have more severe disease than those with truncating mutations...
- Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertensionR Hamid
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA
Clin Genet 77:280-6. 2010..Our data also suggest the need for a more thorough characterization of mutations prior to labeling them as haploinsufficient or dominant negative based simply on sequencing data...
- A molecular basis for variation in clinical severity of isolated growth hormone deficiency type IIRizwan Hamid
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 2578, USA
J Clin Endocrinol Metab 94:4728-34. 2009..The basis of the variable expression and progression of IGHD II among relatives who share the same GH1 mutation is poorly understood...
- Transforming growth-interacting factor (TGIF) regulates proliferation and differentiation of human myeloid leukemia cellsRizwan Hamid
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, United States
Mol Oncol 3:451-63. 2009..Reduced TGIF expression could tip the balance toward quiescence thus providing progenitor as well as hematopoietic stem cells protection from anti-cycle agents...
- Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 alleleRizwan Hamid
Department of Pediatrics, Division of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Hum Mutat 30:649-54. 2009..Furthermore, our study illustrates a novel application of lymphoblastoid cell lines in the study of PAH, especially important because the affected site, that is, the lung, is not available for unaffected mutation carriers...
- Genomic structure, alternative splicing and expression of TG-interacting factor, in human myeloid leukemia blasts and cell linesRizwan Hamid
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Biochim Biophys Acta 1779:347-55. 2008..A detailed characterization of this complex locus is important as it may help to clarify the functions of this gene in brain development and leukemia biology...
- Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in femalesE D Austin
Dept of Pediatrics, Division of Pulmonary, Allergy, and Immunology Medicine, DD 2205 Medical Center North, Vanderbilt University School of Medicine, Nashville, TN, 37232 2578, USA
Eur Respir J 34:1093-9. 2009..Further investigation of the role of oestrogens in this disease with profound sex bias may yield new insights and, perhaps, therapeutic interventions...